2000年5月1日 · Sickle cell disease is caused by a variant of the beta-globin gene called sickle hemoglobin (Hb S). Inherited autosomal recessively, either two copies of Hb S or one copy of Hb S plus another beta-globin variant (such as Hb C) are required for disease expression. Hb S carriers are protected from mal …

The human genome contains a pair of genes for β-globin; in people with sickle cell disease, both genes are affected and the erythropoietic cells in the bone marrow will only create HbS. In people with sickle cell trait, only one gene is abnormal; erythropoiesis generates a mixture of …

Sickle cell anemia (SCA) is characterized by the homozygosity for hemoglobin S (HbS) and is the most frequent and severe form of the disease. The point mutation of G A G to G T G in the sixth codon of the β (beta) globin gene (HBB), which replaces the glutamic acid for a valine, leading to HbS formation [2].

The sickle hemoglobin (HbS) occurs as a single nucleotide mutation (GAG/GTG) in the sixth codon of the β-globin gene. This missense mutation results in the substitution of valine for the glutamic acid at the sixth residue of the β-globin chain.

Sickle cell disease is a group of inherited disorders. The specific type of SCD a person has depends on which HBB gene mutations they inherited from their parents. The HBB gene gives instructions for a part of hemoglobin, which is the protein that travels through the blood to deliver oxygen throughout the body. 1

SCA is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood. SCA is an autosomal recessive disease caused by a point mutation in the hemoglobin beta gene (HBB) found on chromosome 11p15.5.

2024年12月17日 · HbS is formed due to the mutation that leads to changing adenine to thymine and forms a new amino acid, valine, from glutamic acid in the HBB gene. Conversion of HbA to HbS leads to altered electrophoretic mobility of the Hb molecule because of the formation of hydrophobic motif, which further facilitates the HbS polymerization during ...

2020年3月19日 · Sickle cell hemoglobin (HbS) is an example of a genetic variant of human hemoglobin where a point mutation in the β globin gene results in substitution of glutamic acid to valine at sixth position of the β globin chain.

Sickle cell hemoglobin (HbS) is an example of a genetic variant of human hemoglobin where a point mutation in the β globin gene results in substitution of glutamic acid to valine at sixth position of the β globin chain.

2020年1月1日 · In this chapter, we discuss haplotypes of the HbS gene and how their discovery and their association with fetal hemoglobin (HbF) fueled studies of the genetic basis of HbF gene regulation in patients of African and Arab origins.